title: Mutation analysis in 11 French patients with Fabry disease.
authors.affiliation: Centre d'étude des maladies métaboliques, Hôpital Debrousse, Lyon, France.
authors.forename: N
authors.initials: N
authors.lastname: Guffon
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: F
authors.initials: F
authors.lastname: Chevalier-Porst
authors.forename: I
authors.initials: I
authors.lastname: Maire
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D005602:France; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D004247:DNA; D000519:alpha-Galactosidase